rs397518477
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397518477(C;C) |
Make rs397518477(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 131851157 |
Gene | ENPP1 |
is a | snp |
is | mentioned by |
dbSNP | rs397518477 |
dbSNP (classic) | rs397518477 |
ClinGen | rs397518477 |
ebi | rs397518477 |
HLI | rs397518477 |
Exac | rs397518477 |
Gnomad | rs397518477 |
Varsome | rs397518477 |
LitVar | rs397518477 |
Map | rs397518477 |
PheGenI | rs397518477 |
Biobank | rs397518477 |
1000 genomes | rs397518477 |
hgdp | rs397518477 |
ensembl | rs397518477 |
geneview | rs397518477 |
scholar | rs397518477 |
rs397518477 | |
pharmgkb | rs397518477 |
gwascentral | rs397518477 |
openSNP | rs397518477 |
23andMe | rs397518477 |
SNPshot | rs397518477 |
SNPdbe | rs397518477 |
MSV3d | rs397518477 |
GWAS Ctlg | rs397518477 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397518477(C;C) |
Alt | rs397518477(C;C) |
Reference | Rs397518477(G;G) |
Significance | Pathogenic |
Disease | Cole disease |
Variation | info |
Gene | ENPP1 |
CLNDBN | Cole disease |
Reversed | 0 |
HGVS | NC_000006.11:g.132172297G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000074403.25, |